Canonical Allele Identifier: CA1978929702
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759683C= , CM000673.2:g.64759683C= GRCh38
NC_000011.9:g.64527155C= , CM000673.1:g.64527155C= GRCh37
NC_000011.8:g.64283731C= NCBI36
NG_013018.1:g.6033G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.216G= MANE Select ENSP00000164139.3:p.Gln72=
ENST00000164139.3:c.216G= ENSP00000164139.3:p.Gln72=
ENST00000377432.7:c.216G= ENSP00000366650.3:p.Gln72=
NM_001164716.1:c.216G= NP_001158188.1:p.Gln72=
NM_005609.2:c.216G= NP_005600.1:p.Gln72=
NM_005609.3:c.216G= NP_005600.1:p.Gln72=
NM_005609.4:c.216G= MANE Select NP_005600.1:p.Gln72=